Steps Outlined to Screen All Newborns for Heart Defects

MONDAY Aug. 22, 2011 -- Acting on 2010 U.S. Health and Human Services recommendations, a panel of pediatric and cardiac experts has outlined a strategy for routine screening of newborns to improve detection of congenital heart disease.

By measuring oxygen levels in newborns' blood before hospital discharge, doctors would be better able to identify the potentially lethal but often treatable heart condition, the experts said.

New Jersey will start screening for congenital heart disease (CHD) on Aug. 31 using a noninvasive test, called pulse oximetry.

"One percent of all newborns have congenital heart disease, and about one quarter have critical heart defects which require early intervention," explained study lead author Dr. Alex R. Kemper, an associate professor of pediatrics at Duke University in Durham, N.C. "And if they're not picked up in a timely way then the baby can even die."

The challenge, Kemper said, is that in the hospital nursery these children look like every other child. "It's hard to identify them. And that is also true even when women get mid-pregnancy ultrasounds. Some cases are picked up. But it can be very easy to miss a baby with a life-threatening congenital heart situation," he explained.

Congenital heart disease causes more deaths before age 1 year than any other birth defect. Universal screening would help identify defects early and improve survival rates, experts said.

As envisioned by Health and Human Services, screening will be instituted at the discretion of individual states, rather than federally mandated.

The new strategy, outlined online Aug. 22 in Pediatrics, addresses the development of national standards, implementation and follow-up procedures. The guidelines came out of a working group that met in January and included representatives from the American Academy of Pediatrics, the American College of Cardiology Foundation and the American Heart Association in conjunction with the HHS Secretary's Advisory Committee on Heritable Disorders in Newborns and Children.

Noting that the U.S. Food and Drug Administration is establishing standards for the machines that do pulse oximetry screenings, the working group recommended that CHD screenings use only those machines that conform to FDA standards when established.

To reduce the risk of false positive results on the first day of life, screening should be done on day two, the experts said. And the right hand and one foot (simultaneously or one after the other) should be the target test sites.

The committee also set optimal screening thresholds based on recent research from Sweden and England, which aim to reduce the risk for missing CHD or triggering a false positive.

To minimize stress on the child and family, facilities also should draft clear follow-up plans to ensure the swift and orderly handling of all babies who test positive for CHD, the group said.

"This is pretty good news," said Kemper. "But clearly there are still issues that need to be clarified before most hospitals would start doing this. The first is that if the screening picks up indications of a heart defect then the next step is the baby will need to get an echocardiogram, which is a scan of the heart. And a lot of hospitals just don't have that equipment. So some babies will need to be transferred to other hospitals for that."

Also, "we need to mitigate against the risk for false positives by having an effective algorithm in place to ensure that we're limiting the risk for incorrectly identifying defects," he added.

Dr. Alan R. Fleischman, medical director for the March of Dimes Foundation in White Plains, N.Y., and a working group participant, expressed enthusiasm for the screening guidelines.

"The seven specific types of heart disease this screening looks for account for somewhere around just a quarter of all congenital heart disease," Fleischman said. "But these types present with devastating symptoms in the first days to weeks of life, and are often not picked up until the child is critically ill."

This simple, noninvasive test has the potential to pick up these children before they have symptoms and get them immediate medical or surgical intervention, he added. "This is a very important diagnostic advance."

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